Chitotriosidase enzyme (EC: 3.2. 1.14) is the major active chitinase in the human body. It is
produced mainly by activated macrophages, in which its expression is regulated by multiple …

X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease
caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids …

Background Gaucher disease (GD) is the most common lysosomal storage disorder (LSD).
Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide …

Tissue organoids are a promising technology that may accelerate development of the
societal and NIH mandate for precision medicine. Here we describe a robust and simple …

Importance Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease
associated with progressive cerebral demyelination and rapid, devastating neurologic …

Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations
in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in …

Background Cerebrospinal fluid from amyotrophic lateral sclerosis patients (ALS-CSF)
induces neurodegenerative changes in motor neurons and gliosis in sporadic ALS models …

Abstract X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease
caused by mutations in the ABCD1 gene, encoding a member of the peroxisomal ABC …

Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflammatory
manifestation found in up to 40% of young males with an inherited mutation in ABCD1, the …

BACKGROUND AND PURPOSE: Outcomes following hematopoietic stem cell
transplantation for higher risk childhood-onset cerebral adrenoleukodystrophy are variable …